Linked Data
ClinVar Variation Id:
163172
dbSNP Id:
rs72721725
ExAC:
14:74156229 C / T
gnomAD v2:
14-74156229-C-T
gnomAD v3:
14-73689526-C-T
gnomAD v4:
14-73689526-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73689526C>T , CM000676.2:g.73689526C>T | GRCh38 |
| NC_000014.8:g.74156229C>T , CM000676.1:g.74156229C>T | GRCh37 |
| NC_000014.7:g.73225982C>T | NCBI36 |
| NG_028083.1:g.49652C>T | |
| NG_028083.2:g.49652C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553645.7:c.532+11C>T MANE Select | ENSP00000452037.1:n.532+11C>T | |
| ENST00000311089.7:c.193+11C>T | ENSP00000310360.3:n.193+11C>T | |
| ENST00000553645.6:c.532+11C>T | ENSP00000452037.1:n.532+11C>T | |
| ENST00000554159.1:c.278+2141C>T | ENSP00000451264.1:n.278+2141C>T | |
| ENST00000554339.5:c.271+11C>T | ENSP00000450744.1:n.271+11C>T | |
| ENST00000554871.5:c.415+11C>T | ENSP00000451834.1:n.415+11C>T | |
| NM_001201366.1:c.415+11C>T | NP_001188295.1:n.415+11C>T | |
| NM_031427.3:c.532+11C>T | NP_113615.2:n.532+11C>T | |
| XM_011537204.1:c.415+11C>T | XP_011535506.1:n.415+11C>T | |
| XM_017021679.2:c.415+11C>T | XP_016877168.1:n.415+11C>T | |
| XM_024449715.1:c.415+11C>T | XP_024305483.1:n.415+11C>T | |
| NM_031427.4:c.532+11C>T MANE Select | NP_113615.2:n.532+11C>T | |
| NM_001201366.2:c.415+11C>T | NP_001188295.1:n.415+11C>T |